Discovery in Portugal of the oldest case of Klinefelter syndrome

Klinefelter syndrome is a rare genetic disorder that results in the presence of an extra X sex chromosome in genetically male individuals. In the archaeological context, some alleged cases would have been detected, such as the Finnish warrior from Suontaka Vesitorninmäki – based solely on the analysis of genetic material. A study recently published in the lancet It provides new elements to diagnose Klinefelter syndrome on even more grounded bases, since it combines for the first time three types of tests: genetic, but also morphological and osteological. The international team of researchers, coordinated by the Portuguese geneticist João C. Teixeira, currently stationed at the Australian National University in Canberra, has thus identified the presence of an additional X chromosome in a man who lived in Braganza, in northeastern Portugal. about a thousand years ago The development of a new method to determine genetic characteristics in the framework of this study could serve in the future as a basis for identifying genetic diseases in other contexts where DNA is fragile or degraded, such as medical, legal or prenatal diagnosis.

A genetic abnormality, Klinefelter syndrome, would have been identified in a man of the Middle Ages

The individual studied by the international team that brings together archaeologists, anthropologists, geneticists and statisticians was buried in the Torre Velha archaeological site, a necropolis excavated between 2012 and 2015 by researchers from the University of Coimbra. Located on the outskirts of the city of Bragança, Torre Velha is now considered one of the most remarkable places in the Trás-os-Montes region of northeastern Portugal. So far, 59 burials have been unearthed there, mainly individual graves, but also ossuaries grouping together several individuals. They were dug directly into the shale rock.”which is typical of medieval sites in Iberia“, reveals the study; Carbon 14 dating indicates that the burials occurred between the 6th and 13th centuries AD.
The individual who caught the researchers’ attention would have been buried between the 11th and 12th centuries, authorizing mass spectrometer dating to a margin of between 1020 and 1160 AD It was placed in an oval-shaped tomb, the researchers write, who did not find neither cover nor funerary furniture. His burial in a recumbent position, with his arms crossed over his chest and oriented from west to east, corresponds to Christian custom.

Torre Velha Necropolis Credit: João C. Teixeira et al.  / the lancet

The man was buried with his arms crossed over his chest.. © João C. Teixeira et al. / the lancet

An extra X chromosome

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